7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling
| Autor: | Francesco Scibelli, Viola Alesi, Ginevra Zanni, Cristina Caciolo, Bruno Dallapiccola, Maria Cristina Digilio, Paola De Rose, Maria Lisa Dentici, Lorenzo Sinibaldi, Marco Tartaglia, Paolo Alfieri, Rossella Capolino, Paola Bergonzini, Stefano Vicari, Antonio Novelli, Francesca Cumbo |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
congenital hereditary and neonatal diseases and abnormalities Williams–Beuren Syndrome Audiology Article lcsh:RC321-571 03 medical and health sciences 0302 clinical medicine Intellectual disability dup7q11.23 Medicine anxiety disorder 0501 psychology and cognitive sciences lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry business.industry Microstomia congenital anomalies General Neuroscience 05 social sciences Neuropsychology Macrocephaly medicine.disease Hypotonia humanities Palpebral fissure duplication intellectual disability Anxiety medicine.symptom business human activities 030217 neurology & neurosurgery Anxiety disorder 050104 developmental & child psychology |
| Zdroj: | Brain Sciences, Vol 10, Iss 839, p 839 (2020) Brain Sciences Volume 10 Issue 11 |
| ISSN: | 2076-3425 |
| Popis: | 7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams&ndash Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed. |
| Databáze: | OpenAIRE |
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